Craniofacial Panel
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000519546.7
- Last updated: 2023-07-18
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Craniosynostosis syndrome
Offered by Genetic Services Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Craniofacial Panel
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Mutation Confirmation, Monitoring, Risk Assessment, Pre-symptomatic, Diagnosis, Screening
Click Indication tab for more information.
•All samples should be shipped via overnight delivery at room temperature.
•No weekend or holiday deliveries.
•Label each specimen with the patient’s name, date of birth and date sample collected.
•Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://dnatesting.uchicago.edu/submitting-sample
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
Establish or confirm diagnosis
- 1. Wilkie, A.O. and G.M. Morriss-Kay, Genetics of craniofacial development and malformation. Nat Rev Genet, 2001. 2(6): p. 458-68. 2. Kimonis, V., et al., Genetics of craniosynostosis. Semin Pediatr Neurol, 2007. 14(3): p. 150-61. 3. Janssen, A., et al., Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. Am J Med Genet A, 2013. 161(9): p. 2352-7. 4. Sharma, V.P., et al., Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet, 2013. 45(3): p. 304-7. 5. Twigg, S.R., et al., Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet, 2013. 45(3): p. 308-13. 6. Twigg, S.R., et al., Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet, 2009. 84(5): p. 698-705. 7. Kayserili, H., et
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Confirmation of research findings
- Clinical Testing/Confirmation of Mutations Identified Previously
- Custom mutation-specific/Carrier testing
- Custom Prenatal Testing
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.